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GENE - TERM ANNOTATION REPORT

RGD ID: 736469
Species: Homo sapiens
RGD Object: Gene
Symbol: ELN
Name: elastin
Acc ID: HP:0100775
Term: Dural ectasia
Definition: A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.
Definition Source(s): https://orcid.org/0009-0006-4530-3154
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
ELN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dural ectasia

PMID:11175284 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29555671 PMID:29907982 PMID:31589614
ELN IAGP 8699517HPO ORPHA:91387
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